Canonical Allele Identifier: CA10326098

Gene: SHANK3

Linked Data

• dbSNP Id: rs770295872
• ExAC: 22:51159919 G / A
• gnomAD v2: 22-51159919-G-A
• gnomAD v4: 22-50721491-G-A
• MyVariant Identifiers: chr22:g.51159919G>A (hg19) ; chr22:g.50721491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721491G>A , CM000684.2:g.50721491G>A	GRCh38
NC_000022.10:g.51159919G>A , CM000684.1:g.51159919G>A	GRCh37
NC_000022.9:g.49506785G>A	NCBI36
NG_008607.2:g.52137G>A
NG_070230.1:g.57275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3259G>A	ENSP00000489147.2:p.Glu1087Lys
ENST00000414786.7:n.3843G>A
ENST00000445220.7:c.2311G>A	ENSP00000489407.2:p.Glu771Lys
ENST00000664402.2:c.1801G>A	ENSP00000499475.1:p.Glu601Lys
ENST00000673971.2:c.*2257G>A	ENSP00000501192.1:n.*2257G>A
ENST00000445220.6:c.2311G>A	ENSP00000489407.2:p.Glu771Lys
ENST00000262795.6:c.3259G>A	ENSP00000489147.2:p.Glu1087Lys
ENST00000664402.1:c.1801G>A	ENSP00000499475.1:p.Glu601Lys
ENST00000673971.1:c.*2257G>A	ENSP00000501192.1:n.*2257G>A
ENST00000262795.5:c.3655G>A	ENSP00000489147.1:p.Glu1219Lys
ENST00000414786.6:n.3843G>A
ENST00000445220.5:c.3637G>A	ENSP00000489407.1:p.Glu1213Lys